Normal cerebrospinal fluid (CSF) glucose together with lymphocytosis, an increased opening pressure and raised CSF protein are typical of a viral meningitis.

Breast feeding should be continued for babies with breast milk jaundice as this is a benign condition.

Among the options provided, the most characteristic finding that can be expected in his patient’s urine microscopy is RBC casts. Red cell casts are a characteristic feature of acute nephrotic syndrome. Other options:- Hyaline casts may be seen in normal urine, particularly after exercise. – Coarse granular casts occur in glomerular and tubular disease. – Tubular cell casts may be seen in patients with acute tubular necrosis. – The presence of 10 or more white blood cells/mm3 is abnormal and indicates an inflammatory reaction, most commonly due to infection.

Germinal matrix/intraventricular haemorrhage (GM/IVH) is a complication of premature delivery that can result in life-long medical and developmental consequences.Loss of autoregulation of cerebral blood flow is a pathophysiologic feature of germinal matrix/intraventricular haemorrhage (GM/IVH). Prematurity itself results in derangements in cerebral autoregulation. In some patients, a history of additional events that result in loss of autoregulation can be obtained. Furthermore, events that can result in beat-to-beat variability of cerebral blood flow may be identified in some patients.There may be no symptoms. The most common symptoms seen in premature infants include:- Breathing pauses (apnoea)- Changes in blood pressure and heart rate- Decreased muscle tone- Decreased reflexes- Excessive sleep- Lethargy- Weak suck- Seizures and other abnormal movements

The most common cause of iron deficiency anaemia in children in developing countries is parasitic infection (hookworm, amoebiasis, schistosomiasis and whipworm).

Intussusception is one of the common causes of intestinal obstruction in children, resulting from the invagination or telescoping of one segment of the bowel into the other distal segment. It may induce bowel ischemia and necrosis, as well. It can occur as a complication of Meckel’s diverticulum. It usually occurs proximal to the ileocecal valve, and the most common presentation is ileocecal. Early signs and symptoms include cramping abdominal pain, nausea, vomiting, and pulling legs up to chest area. First line treatment includes resuscitation with IV fluids and nasogastric tube. It responds well to air-enema, which is also diagnostic.

Somogyi effect presents with night-time hypoglycaemia followed by early-morning hyperglycaemia, hence the glycosuria.

Odds ratios are best described as the odds of an event in one group divided by the odds of the event in another. They form an alternative to the relative risk in case–control studies and are close to the relative risk when events are rare. The odds are the number of the event divided by the number without the event, which is less intuitive than the risk, which is the number with the event divided by the total. Odds ratios are therefore less intuitive than relative risks. Logistic regression analysis outputs variable coefficients which are the log of the odds ratio.

Fabry disease (Angiokeratoma corporis diffusum) is an X-linked lysosomal disorder which occurs due to deficiency or absence of alpha-galactosidase A (α-GAL A) activity as a result of a genetic mutation in the GLA gene. As Fabry’s disease follows X-linked genetics it manifestis predominantly in men. Ongoing burning, tingling pain and discomfort, known as acroparesthesia, mainly affecting the hands and feet is the most debilitating symptom in childhood.

The injury described in question leads to an abnormal communication between the orbit and the ipsilateral maxillary sinus – this is termed as a blow-out fracture of the orbit.The maxillary sinuses are found in the maxillary bone, inferior to the orbit. They are the largest of the paranasal air sinuses. The maxillary bone forms the floor of the orbit. This layer of bone separates the orbit from the maxillary sinus. As such, fractures of the floor of the orbit can be associated with herniation of the orbital contents into the maxillary sinus. Other options:- The ethmoidal air cells are a collection of smaller air cells in the ethmoid bone. They lie lateral to the anterior superior nasal cavity. They are separated from the orbit by a very thin plate of ethmoid bone called the lamina papyracea, which is found on the medial wall of the orbit. The thin nature of this bone means it is commonly fractured in orbital trauma. However, this is the incorrect answer to the above question as a communication between the ethmoidal air cells, and the orbit is associated with fractures of the medial wall of the orbit, not the floor. – The frontal sinuses are found in the frontal bones, above the orbits on each side of the head. A large portion of the roof of the orbit is composed of the frontal bone and separates the orbit from the frontal sinus. Fractures of the roof of the orbit can be associated with communication between the frontal sinus and orbit. The frontal bones are strong, and so fracture is associated with high-impact anterior trauma, such as a road traffic accident. – The sphenoid sinuses are found in the posterior portion of the roof of the nasal cavity. The pituitary gland lies nestled within the hypophyseal fossa, with only a thin wall of bone separating it from the sphenoid sinus below. As such, neurosurgeons can gain access to the pituitary gland via the sphenoid sinus, in a procedure called transsphenoidal hypophysectomy. – The nasal cavity extends from the nares to the nasopharynx. It is found more medial and inferior than the orbits. It does not lie adjacent to the orbit at any point and so is unlikely to be involved in an orbital fracture.

Although all of the options may lead to an acute red scrotum, torsion of the hydatid of Morgagni is the most common cause at this age (age 12-16 years).

In the case of anterior nasal bleeds, when the bleeding point is clearly visualised the best management step is cautery, either electrical or chemical.

A low serum free T4 level with a low, or normal serum TSH level would indicate secondary hypothyroidism. A normal TSH response to TRH is a rise at 20 minutes post-dose and then a fall by 60 minutes, while a normal prolactin response would be a rise at 20 minutes and then a fall by 60 minutes. A continued rise of TSH at 60 minutes implies hypothalamic damage. Secondary hypothyroidism is indicated by a low baseline TSH level, while primary hypothyroidism is demonstrated by a raised TSH.

Infective endocarditis (IE) is an acute infective pathology of the endocardium secondary to some underlying cardiac pathology like VSD and TOF. Most commonly, it is bacterial in origin, caused by staphylococcus aureus in the majority of cases. Clinical features include fever, arthralgias, weight loss, anorexia, new-onset, or changing existing murmur. Skin manifestations include Osler’s nodes, Janeway lesions, splinter haemorrhages, and clubbing. Roth spots are conjunctival haemorrhages found in IE. Beau’s lines are not found in IE.

The most probable diagnosis for this patient would be a duplex kidney with an ectopic ureter inserting below the bladder neck. Rationale: The Weigert-Myer law states that the upper moiety ureter inserts inferior and medial to the lower moiety ureter. Other options:- Horseshoe kidney would display as a single pelvic kidney on an ultrasound scan.- Ureterocele would be a cystic lesion within the bladder or may prolapse at birth. – Continence should not be affected by polycystic kidney disease. – The overactive bladder would cause frequency and urgency, neither of which is mentioned in the history.

Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example, it is possible for a genetic change that abnormally inactivates genes on the paternal chromosome 15 to be passed from one generation to the next.Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

Measles and chickenpox are spread by droplets. Thus, patients should be isolated. Rheumatic fever and post-streptococcal glomerulonephritis are immune mediated diseases that don’t require isolation. Herpetic gingivostomatitis spreads by direct transmission of infected secretions to the stratified squamous epithelium. HSP is not an infectious disease.

The most appropriate imaging modalities to be used in this child would be CT Head, C-spine and Abdomen/Pelvis and chest X-ray (CXR).The C-spine cannot be cleared, this alongside a multi-trauma presentation means a CT C-spine is indicated rather than X-rays alone. The imaging modality for blunt trauma to the chest is CXR| if this shows significant thoracic trauma, a CT chest should be considered. Other options:- CT Head and Abdomen/Pelvis with CXR and X-ray C-spine: This child is at risk of C-Spine injury following the mechanism of trauma. He had a reduced GCS, has undergone a multi-region trauma and is now intubated. NICE head injury guidelines, therefore, recommend using CT.- CT Head, C-spine and Abdomen/Pelvis X-rays: Imaging of the chest is required following blunt trauma and for endotracheal tube position.- MRI Head: If there were concerns of abnormal neurology, then spinal MRI could be considered.- Whole-body CT: It is not recommended in children in view of the high radiation doses.

Answer: Inflammatory bowel diseaseThe inflammatory bowel diseases (IBDs), including ulcerative colitis and Crohn disease, are chronic inflammatory disorders of the gastrointestinal tract most often diagnosed in adolescence and young adulthood, with a rising incidence in paediatric populations. Inflammatory bowel disease is caused by a dysregulated mucosal immune response to the intestinal microflora in genetically predisposed hosts. Although children can present with the classic symptoms of weight loss, abdominal pain, and bloody diarrhoea, many present with nonclassical symptoms of isolated poor growth, anaemia, or other extraintestinal manifestations.Colorectal Carcinoma (CRC) is rare in patients less than 20 years of age.

Breast milk jaundice is associated with breast-feeding. It typically occurs one week after birth and can sometimes last up to 12 weeks, but it rarely causes complications in healthy, breast-fed infants. The exact cause of breast milk jaundice isn’t known. However, it may be linked to a substance in the breast milk that prevents certain proteins in the infant’s liver from breaking down bilirubin. The condition may also run in families. Breast milk jaundice is rare, affecting less than 3 percent of infants. When it does occur, it usually doesn’t cause any problems and eventually goes away on its own. It is safe to continue breast-feeding.

Acute epiglottitis is a life-threatening disorder with serious implications to the anaesthesiologist because of the potential for laryngospasm and irrevocable loss of the airway. There is inflammatory oedema of the arytenoids, aryepiglottic folds and the epiglottis| therefore, supraglottitis may be used instead or preferred to the term acute epiglottitis.Acute epiglottitis can occur at any age. The responsible organism used to be Hemophilus influenzae type B (Hib), but infection with group A b-haemolytic Streptococci has become more frequent after the widespread use of Hemophilus influenzae vaccination. The typical presentation in epiglottitis includes acute occurrence of high fever, severe sore throat and difficulty in swallowing with the sitting up and leaning forward position in order to enhance airflow. There is usually drooling because of difficulty and pain on swallowing. Acute epiglottitis usually leads to generalized toxaemia. The most common differential diagnosis is croup and a foreign body in the airway. A late referral to an acute care setting with its serious consequences may result from difficulty in differentiation between acute epiglottitis and less urgent causes of a sore throat, shortness of breath and dysphagia.

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is a chronic manifestation of pelvic inflammatory disease (PID). It is described as an inflammation of the liver capsule, without the involvement of the liver parenchyma, with adhesion formation accompanied by right upper quadrant pain. A final diagnosis can be made through laparoscopy or laparotomy via direct visualization of violin string-like adhesions or through hepatic capsular biopsy and culture. FHCS is a complication of PID. Microorganisms associated with PID are thought to spread in one of three ways:-Through spontaneous ascending infection, microbes from the cervix or vagina travel to the endometrium, through the fallopian tubes, and into the peritoneal cavity. Complications include endometritis, salpingitis, tubo-ovarian abscess, pelvic peritonitis, and perihepatitis.-Microbes can also spread via lymphatic channels such as an infection of the parametrium from an intrauterine device.-Finally, the hematogenous spread is also possible such as with tuberculosis.

The submandibular glands provide the bulk of salivary secretions contributing close to 70%. The sublingual glands provide 5% and the remainder from the parotid.

Pityriasis rosea is a common, acute exanthem of uncertain aetiology. Viral and bacterial causes have been sought, but convincing answers have not yet been found. Pityriasis rosea typically affects children and young adults. It is characterized by an initial herald patch, followed by the development of a diffuse papulosquamous rash. The herald patch often is misdiagnosed as eczema. Pityriasis rosea is difficult to identify until the appearance of characteristic smaller secondary lesions that follow Langer’s lines (cleavage lines). Several medications can cause a rash similar to pityriasis rosea, and several diseases, including secondary syphilis, are included in the differential diagnosis.

Primary amenorrhea is defined as the total absence of menarche in a girl of 14 years of age if the secondary sexual characteristics are also absent or in a girl of 16 years of age in whom normal secondary sexual characteristics are present. There are multiple causes of primary amenorrhea, but the most common are constitutional delay, imperforate hymen, congenital adrenal hyperplasia, hypothalamic failure, and testicular feminization. Cushing’s syndrome leads to secondary amenorrhea, which is defined as the absence of a menstrual period for 6 consecutive cycles in a girl who has achieved menarche.

Damage to the left parietal lobe can result in what is called Gerstmann’s Syndrome. It includes right-left confusion, difficulty with writing (agraphia) and difficulty with mathematics (acalculia). It can also produce disorders of language (aphasia) and the inability to perceive objects normally (agnosia).Damage to the right parietal lobe can result in neglecting part of the body or space (contralateral neglect), which can impair many self-care skills such as dressing and washing. Right side damage can also cause difficulty in making things (constructional apraxia), denial of deficits (anosognosia) and drawing ability.Bi-lateral damage (large lesions to both sides) can cause Balint’s Syndrome, a visual attention and motor syndrome. This is characterized by the inability to voluntarily control the gaze (ocular apraxia), inability to integrate components of a visual scene (simultanagnosia), and the inability to accurately reach for an object with visual guidance (optic ataxia)Special deficits (primarily to memory and personality) can occur if there is damage to the area between the parietal and temporal lobes.Left parietal-temporal lesions can affect verbal memory and the ability to recall strings of digits. The right parietal-temporal lobe is concerned with non-verbal memory.Right parietal-temporal lesions can produce significant changes in personality.

A drooping eyelid is called ptosis or blepharoptosis. In ptosis, the upper eyelid falls to a position that is lower than normal. Severe ptosis may cover part or all of the pupil and interfere with vision, resulting in amblyopia.Visual development in a child can be permanently impaired when there is deprivation of visual stimulation or when the oculomotor function is impaired. Congenital ptosis can represent both these components

Hydrops fetalis is a serious condition characterized by excessive fluid accumulation resulting in oedema in one or more of the fetal compartments. The most likely cause is fetal anaemia, and the condition may lead to ascites and pleural effusion. The anaemia that results in hydrops may be caused by Rh incompatibility, Parvovirus B19 infection, toxoplasmosis, hepatitis B, maternal syphilis (strong association), Cytomegalovirus, Turner syndrome, and Noonan syndrome.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

Retinopathy of prematurity affects infants born early, and is due to the abnormal growth of retinal vasculature as opposed to vascular occlusion often see in adults. Though most babies with ROP can see normally, the most significant complication of ROP Is retinal detachment which can lead to blindness. Other structures in the eye such as the optic nerve or the fovea however, are not affected. Children may develop nystagmus as a result of poor sight in the affected eye(s).

Unless given IV, a drug must cross several semipermeable cell membranes before it reaches the systemic circulation. Drugs may cross cell membranes by diffusion, amongst other mechanisms. The rate of diffusion of a substance is proportional to the difference in the concentration of the diffusing substance between the two sides of the membrane, the temperature of the solution, the permeability of the membrane and, in the case of ions, the electrical potential difference between the two sides of the membrane.

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.Congenital Hypertrophic Pyloric Stenosis (CHPS):Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive. Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound. Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.The definitive surgical management is the Ramsteadt’s pyloromyotomy.

Atrial septal defects may also occur in association with a variety of other congenital heart defects, or in new-borns that are relatively small or premature. The following conditions are associated with an atrial septal defect:Ebstein’s anomalyFoetal alcohol syndromeHolt-Oram syndromeDown syndromeEllis van Creveld syndromeLutembacher’s syndrome Ostium primum defects occur frequently in individuals with Down syndrome or Ellis van-Creveld syndrome.Holt-Oram syndrome characterized by an autosomal dominant pattern of inheritance and deformities of the upper limbs (most often, absent or hypoplastic radii) has been attributed to a single gene defect in TBX5Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. The physical features in affected males are variable and may not be obvious until puberty. These symptoms can include a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes. Other symptoms can include flat feet, frequent ear infections, low muscle tone, a long narrow face, high arched palate, dental problems, crossed eyes (strabismus) and heart problems including mitral valve prolapse.

Advancing paternal age has been linked with lower quality sperm leading to a reduction in overall fertility and an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor.

Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of Congenital Adrenal Hyperplasia, accounting for more than 90% of cases.Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia)Diagnosis of 21-hydroxylase deficiency: High serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease| 24-hour urinary 17-ketosteroid levels are elevated

18-month-old milestonesSocial and EmotionalLikes to hand things to others as play May have temper tantrums May be afraid of strangers Shows affection to familiar people Plays simple pretend, such as feeding a doll May cling to caregivers in new situations Points to show others something interesting Explores alone but with parent close by Language/CommunicationSays several single words Says and shakes head “no” Points to show someone what he wants Cognitive (learning, thinking, problem-solving)Knows what ordinary things are for| for example, telephone, brush, spoon Points to get the attention of others Shows interest in a doll or stuffed animal by pretending to feed Points to one body part Scribbles on his own Can follow 1-step verbal commands without any gestures| for example, sits when you say “sit down” Movement/Physical DevelopmentWalks alone May walk up steps and run Pulls toys while walking Can help undress herself Drinks from a cup Eats with a spoon

The best answer is Henoch-Schönlein Purpura (HSP). This patient has a characteristic rash and the labs are consistent with this diagnosis.

Among the given options, psoriasis is not associated with hypertrichosis.The causes of hypertrichosis include:- Drugs: minoxidil, ciclosporin, and diazoxide.- Congenital hypertrichosis lanuginosa and congenital hypertrichosis terminalis.- Porphyria cutanea tarda- Anorexia nervosa

Hypopigmentation refers to a decrease in the amount of the pigment melanin in the skin, which leads to an abnormally lighter skin tone. Hypopigmentation can be generalized or localized. Generalized hypopigmentation occurs in albinism or can be ethnicity related. Causes of localized hypopigmentation include Incontinentia pigmenti, Lichen planus, Tuberous sclerosis, Piebaldism, vitiligo, and leprosy. Celiac disease is not associated with hypopigmentation.

Androgen excess is one of the most common causes of advanced bone age. It usually occurs in precocious puberty or congenital adrenal hyperplasia.

The initial symptoms of spasmodic abdominal pain, rectal bleeding and vomiting might point towards intussusception, but the peak incidence is in children aged 6–9 months. Considering that this child has additional symptoms of haematuria, proteinuria and a purpuric rash, it is more likely that the child has Henoch–Schönlein purpura (HSP). HSP is an identifiable cause of intussusception. It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints. It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection. A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure. Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

Homonymous hemianopia (HH) is a visual field defect involving either two right or the two left halves of the visual field of both eye. It results from the damage of the visual pathway in its suprachiasmatic part. The causes of HH include stroke, brain tumours, head injuries, neurosurgical procedures, multiple sclerosis and miscellaneous conditions. HH result in a severe visual impairment and affect a variety of cognitive visual functions. Patients with HH frequently have difficulties with reading and scanning scenes in sufficiently rapid fashion to make sense of things as a whole. They stumble, fall or knock objects in their surroundings, since they cannot see them and they are frequent surprised that somebody or something suddenly appeared in their visual field. The prognosis of visual field deficit recovery is highly variable and depends on the cause and severity of brain nd optic pathway injury.

Based on the clinical scenario provided, the most probable diagnosis is Peutz-Jeghers syndrome.Peutz-Jeghers syndrome is an autosomal dominant condition characterised by numerous hamartomatous polyps in the gastrointestinal tract. It is also associated with pigmented freckles on the lips, face, palms and soles.Genetic basis: It follows an autosomal dominant inheritance, and the gene responsible encodes serine-threonine kinase LKB1 or STK11.Classical features of PJS include:- Hamartomatous polyps in the GI tract (mainly small bowel)- Pigmented lesions on lips, oral mucosa, face, palms and soles- Intestinal obstruction, e.g. intussusception- Gastrointestinal bleedingThe treatment is mainly conservative unless complications develop.Note:Hereditary haemorrhagic telangiectasia can also be associated with mucocutaneous lesions and iron-deficiency anaemia, but intestinal polyps are not a feature.

Chickenpox is caused by the varicella-zoster virus. The clinical signs of infection are fever and a maculopapular rash – this is a unique rash with both flat and raised lesions on the skin.

Pulmonary surfactant is a lipoprotein complex that is responsible for preventing the collapse of alveoli and increasing lung compliance.It is produced in the endoplasmic reticulum and secreted from the lamellar bodies of type 2 pneumocytes.Surfactant is essential for reducing surface tension at the air-water interface in the alveoli, thus preventing the collapse of alveoli during expiration. It is composed of dipalmitoyl phosphatidylcholine (DPPC), which is a phospholipid.In fetal development, production of surfactant begins around 26 weeks of gestation and reaches mature levels by 35 weeks.The deficiency of surfactant can result in neonatal respiratory distress syndrome or hyaline membrane disease, particularly in premature new-born babies.

Adrenal insufficiency is a serious medical condition that leads to inadequate secretion of corticosteroids. There are three main types of adrenal insufficiency: primary, secondary, and tertiary, based on the location of the abnormality. Primary adrenal insufficiency is caused by any pathology located inside the adrenal glands. The most common cause of primary adrenal insufficiency is Addison’s disease, which is an autoimmune condition. Adrenoleukodystrophy is an X-linked neurodegenerative disease that also causes primary adrenal insufficiency. Secondary adrenal insufficiency is caused by any pathological impairment of the pituitary gland or the hypothalamus. The important causes of secondary adrenal insufficiency include iatrogenic (steroid use), pituitary tumours like craniopharyngioma, and conditions leading to panhypopituitarism like Sheehan’s syndrome. Tertiary adrenal insufficiency is caused by the deficiency of the corticotropin-releasing hormone. Hypoparathyroidism does not cause adrenal insufficiency.

The most probable diagnosis in this patient is Noonan syndrome.Noonan syndrome is an autosomal dominant condition characterised by short stature, heart defects (mainly pulmonary stenosis) and learning difficulties. An affected foetus can present with a significant increase in the nuchal thickness or a cystic hygroma of the neck. The condition is variable, and an affected parent is often only diagnosed after the diagnosis in the child.

Drug withdrawal symptoms after a period of substance abuse can lead to a range of symptoms. Amphetamines are known to cause hypersomnia, hyperphagia, and irritability, as well as vivid dreams as a result of withdrawal. Similar symptoms are found in cocaine withdrawal. Alcohol withdrawal presents with symptoms such as insomnia, tremulousness and delirium. Ecstasy withdrawal includes irritation, mood swings, fatigue and insomnia. Heroin withdrawal presents with symptoms which include dilated pupils, insomnia, abdominal cramps and muscle aches. Withdrawal from prolonged cannabis use can cause depression, anxiety restlessness and insomnia.

A lumbosacral lipoma is a form of congenital spinal lipoma and can be regarded as a cutaneous marker of dysraphism. It is not a skin condition but rather represents a defect in the process of neurulation and leads to a constellation of other abnormalities. The most common other systemic abnormalities associated with midline lumbosacral lipoma include complex anorectal and urological malformations. Other mentioned conditions are benign rashes or birthmarks.

The most probable cause for the patient’s symptoms is intussusception.Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema. However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.Other options:- Enteric duplication: a duplication cyst could give all these features, although it may contain sufficient gastric epithelium to produce a positive Meckel’s scan. However, this is comparatively rare. – Meckel’s diverticulum: Scintigraphy has poor sensitivity making the possibility of a bleed from a Meckel’s diverticulum a genuine differential for this patient. However, considering the presence of features of bowel obstruction in the patient, a Meckel’s diverticulum bleeding and obstructing at the same time would be a rare phenomenon. – Midgut volvulus: It is also a plausible differential in this patient. However, for the given age group, a midgut volvulus is relatively uncommon compared to intussusception. – Acute appendicitis: While it is true that appendicitis can present acutely with a palpable mass and bowel obstruction, it rarely presents with rectal bleeding.

Diazepam given rectally may be helpful in treating prolonged convulsions outside and within hospital when intravenous injection is not possible. A rectal dose of 0.5 mg/kg (maximum 10 mg) of injectable diazepam, undiluted or diluted with a 50% propylene glycol solution, can stop seizures in up to 80% of children. There are few adverse reactions. Seizures in children usually cease spontaneously within 5-10 minutes and are rarely associated with significant sequelae. The chance of a seizure stopping spontaneously decreases significantly after 10-15 minutes. Similarly, the efficacy of anticonvulsant medication decreases after 10-15 minutes of fitting and the risk of adverse effects increases. Convulsive seizures lasting longer than 30 minutes constitute status epilepticus and may be complicated by cardio respiratory depression and brain injury. Diazepam or clonazepam, given intravenously, is generally the drug of choice for the emergency treatment of convulsive status epilepticus. Intravenous diazepam may be difficult to administer to the young convulsing child and, because of the need for intravenous access, is not ideal for rapid treatment in the community by non-medical carers.

Answer: RicketsRickets is a disease of growing bone that is unique to children and adolescents. It is caused by a failure of osteoid to calcify in a growing person. The signs and symptoms of rickets can include:pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily| the child’s walk may look different (waddling)skeletal deformities – thickening of the ankles, wrists and knees, bowed legs, soft skull bones and, rarely, bending of the spinedental problems – including weak tooth enamel, delay in teeth coming through and increased risk of cavitiespoor growth and development – if the skeleton doesn’t grow and develop properly, the child will be shorter than averagefragile bones – in severe cases, the bones become weaker and more prone to fractures.Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture. Osteoporosis is a disease in which bone weakening increases the risk of a broken bone. It is the most common reason for a broken bone among the elderly. Bones that commonly break include the vertebrae in the spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. Chronic pain and a decreased ability to carry out normal activities may occur following a broken bone.Osteoporosis may be due to lower-than-normal maximum bone mass and greater-than-normal bone loss. Bone loss increases after menopause due to lower levels of oestrogen. Osteoporosis may also occur due to a number of diseases or treatments, including alcoholism, anorexia, hyperthyroidism, kidney disease, and surgical removal of the ovaries.

The baby may have hydrocephalus and no surgery can be done until it is excluded.Cranial sonography is an important part of neonatal care in general, and high-risk and unstable premature infants, in particular. It allows rapid evaluation of infants in the intensive care units without the need for sedation and with virtually no risk. Expectedly, sonography represents an ideal imaging modality in neonates due to its portability, lower cost, speed, and lack of ionizing radiations. Although there are numerous indications for cranial sonography, it appears to be most useful for detection and follow-up of intracranial haemorrhage, hydrocephalus, and periventricular leukomalacia (PVL).

Hyposplenism usually occurs after the surgical removal of the spleen or in pathological processes where the splenic tissue is replaced with abnormal tissue. It is often associated with diseases such as sickle cell disease, Coeliac disease, SLE and Dermatitis Herpetiformis. Myxoedema however bears no known association with hyposplenism. Patients with hyposplenism are at risk of fulminant bacterial infection.

Age (years) Respiratory rate (per minute) Heart rate (per minute) Systolic blood pressure<1 30-40 110-160 70-901-2 25-35 100-150 80-952-5 25-30 95-140 80-1005-12 20-25 80-120 90-110>12 15-20 60-100 100-120Adapted from Advanced Paediatric Life Support Manual

The red reflex examination is an important part of the paediatric ocular assessment. The red reflex is abnormal in conditions like retinoblastoma, retinopathy of prematurity, cataract, and retinal detachment. Amblyopia is a cortical developmental disorder that results in defective visual inputs to both the eyes. The disorder occurs during the cortical plasticity stage of embryonic development. The red reflex is normal in this case since there is no hindrance to the reflection of light from the ocular media and fundus.

Precocious puberty is the attainment of normal pubertal biochemical and physical features at an abnormally earlier age. The age cut-offs commonly used to define precocious puberty are 8 years for females and 9 years for males. The onset of normal puberty is triggered by gonadotropic-releasing hormones from the hypothalamus.In most of the familial cases, the condition is transmitted by affected father. In boys, this makes up about 5% of the cases.Full adult height potential is not achieved in patients of precious puberty, although there is an advanced bone maturation.

Most cases of Trisomy 18, also called Edwards syndrome, are not inherited but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body’s cells.Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body’s cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.Partial trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.Canavan disease is a type of leukodystrophy and a degenerative disorder that causes progressive damage to nerve cells in the brain. It is inherited in an autosomal recessive manner.Cystic Fibrosis is the most common lethal recessive disease of white people, with a carrier frequency of 1:25 and is inherited in an autosomal recessive manner.Galactosaemic is autosomal recessive and due to mutations in the GALT gene.Phenylketonuria is the most common inborn error of metabolism in the UK with an incidence of 1:10,000 and a carrier rate of 1:50.

The most probable diagnosis for this patient would be torsion of a hydatid cyst of the testis.Note:The differential diagnoses in acute testicular pain/swelling are listed in the possible answers. Testicular torsion typically affects adolescent males and presents with acute painful swelling and a horizontally lying testicle. Other options:- Epididymo-orchitis is diagnosed during surgery when a thickened erythematous epididymis is noted. Ectopic ureteric insertion into the vas must be excluded by ultrasound scan on an out-patient basis. The hydatid cyst or cyst of Morgagni represents the remnants of the Mullerian structure. In the pre-pubertal child, a surge in hormones can stimulate growth and chance of torsion. It is diagnosed by surgical exploration or by a blue dot sign. Idiopathic scrotal oedema tends to be within the scrotum itself, and the testis can be examined in the groin to exclude pain in the testis. All acute scrotal pain must be explored to exclude testicular torsion unless a surgical registrar is convinced of a torted hydatid cyst.- An 8-year-old is more likely to present with a torted hydatid cyst. The blue dot sign is diagnostic and can negate the need for surgical exploration. The age of the child also makes epididymo-orchitis less likely.- Idiopathic scrotal oedema presents with an erythematous and thickened scrotum. This can cross the midline and involve the whole scrotum.- Finally, an inguinal hernia would present with a mass in the groin extending to the scrotum that you cannot get above.

Pellagra occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes. Since tryptophan in the diet can be converted to niacin in the body, both of these need to be deficient for pellagra to develop.The classical triad of symptoms is diarrhoea, dermatitis and dementia.The first sign is reddened skin with superficial scaling in areas exposed to sunlight, heat and friction. This may resemble severe sunburn then gradually subsides leaving a dusky brown-red colouration. The rash is usually symmetrical with a clear edge between affected and unaffected skin.

During lumbar puncture, the first structures encountered by the needle are skin and subcutaneous tissue. But, since they are not provided in the options, the most superficial structure after them is the supraspinous ligament.Lumbar puncture is a procedure performed to obtain cerebrospinal fluid. The procedure is best performed at the level of L3/L4 or L4/5 interspace. During the procedure, the needle pierces the following structures in order from superficial to deep: Skin, subcutaneous tissue, supraspinous ligament, interspinous ligament, ligamentum flavum, the epidural space containing the internal vertebral venous plexus, dura, and arachnoid, finally entering the subarachnoid space. The supraspinous ligament connects the tips of spinous processes and the interspinous ligaments between adjacent borders of spinous processes.As the needle penetrates the ligamentum flavum, it causes a give. A second give is felt when the needle penetrates the dura mater and enters the subarachnoid space. At this point, clear CSF flows through the needle and can be collected for diagnostic purposes.

Tuner’s syndrome is not associated with arachnodactyly.Arachnodactyly is seen in the following conditions:- Marfan syndrome- Homocystinuria- Ehlers-Danlos syndrome- Congenital contractural arachnodactylyOther rare syndromes include:- Loeys-Dietz syndrome- Antley-Bixler syndrome- Marden-Walker syndrome- Lujan-Frinz syndrome- Haim-Munk syndrome- Marden-Walker syndrome- Spondylocostal dysostosis

Nissl body is a neuron-specific cellular structure. It is composed of rough endoplasmic reticulum and fine granules. The rough endoplasmic reticulum contains free ribosomes, and are the hub of protein synthesis. When these substances are exposed to a cresyl violet solution, they show selective-staining by turning purple-blue. In pathologic processes, they may undergo chromatolysis.

Achondroplasia is one of the commonest forms of skeletal dysplasias that lead to dwarfism. Multiple skeletal deformities are associated with it but the common cranial abnormalities are macrocephaly, frontal bossing, depressed nasal bridge, narrowed foramen magnum, and the presence of communicating hydrocephalus. A prominent maxilla is not associated with achondroplasia.

This clinical case is most probably due to intussusception complicated by sepsis. Regardless of the cause, the baby is sick and in a critical condition. The first thing to do is to preserve the vital signs and resuscitate with IV fluids. As sepsis is suspected, you should also start on triple antibiotics.

The sympathetic chain lies posterior to the parietal pleura. During a thorascopic sympathectomy, this structure will have to be divided. The intercostal vessels lie posteriorly. They may be damaged with troublesome bleeding but otherwise are best left alone as the deliberate division will not improve surgical access.The sympathetic nervous system:The cell bodies of the preganglionic efferent neurones lie in the lateral horn of the grey matter of the spinal cord in the thoracolumbar regions.The preganglionic efferents leave the spinal cord at levels T1-L2. These pass to the sympathetic chain.Lateral branches of the sympathetic chain connect it to every spinal nerve. These postganglionic nerves will pass to structures that receive sympathetic innervation at the periphery.Sympathetic chains:These lie on the vertebral column and run from the base of the skull to the coccyx.Clinical correlation:Interruption of the head and neck supply of the sympathetic nerves will result in an ipsilateral Horner’s syndrome.For the treatment of hyperhidrosis, the sympathetic denervation can be achieved by removing the second and third thoracic ganglia with their rami. Removal of T1 will cause a Horner’s syndrome and is therefore not performed.In patients with vascular disease of the lower limbs, lumbar sympathectomy may be performed, either radiologically or (more rarely now) surgically. The ganglia of L2 and below are disrupted. Care should be taken to preserve the L1 ganglion. If it is removed in male patients, ejaculation may be compromised.

Congenital hypothyroidism results from insufficient levels of thyroid hormone in the body since birth, which is either due to dysgenesis of the thyroid gland or dyshormonogenesis. The important features of this disease include coarse facial features (macroglossia, large fontanelles, depressed nasal bridge, hypertelorism, etc.), failure to thrive, cardiomegaly, hypotonia, umbilical hernia, and low core body temperature among many others. Frontal bossing is the usual feature of rickets and acromegaly. Mitral regurgitation is not usually associated with congenital hypothyroidism.

The clinical picture suggests that the child is severely dehydrated. IV fluid bolus then IV maintenance fluids is the correct option.

Eight percentage of infantile haemangiomas are focal and solitary. Sixty percent of cutaneous haemangiomas occur on the head and neck, 25% on the trunk, and 15% on the extremities. Haemangiomas also can occur in extracutaneous sites, including the liver, gastrointestinal tract, larynx, CNS, pancreas, gall bladder, thymus, spleen, lymph nodes, lung, urinary bladder, and adrenal glands.Guidelines on the management of infantile haemangioma were released in December 2018 by the American Academy of Paediatrics stating that:Imaging is not necessary unless the diagnosis is uncertain, there are five or more cutaneous infantile haemangiomas present, or there is suspicion of anatomic abnormalities.

The characteristic cells in granulomatous inflammation are giant cells, formed from merging macrophages and epithelioid cells elongated with granular eosinophilic cytoplasm. Granulomatous reactions are seen in patients with tuberculosis. A tuberculous/caseating granuloma is characterised by a zone of central necrosis lined with giant multinucleated giant cells (Langhans cells) and surrounded by epithelioid cells, lymphocytes and fibroblasts. The caseous zone is present due to the damaged and dead giant cells and epithelioid cells.
Mast cells are only few in number and fibroblasts lay down collagen.
Basophils are not present.
The giant cell made up of macrophages are the most abundant cells in this inflammatory process.

Congenital heart defects are common (40-50%)| they are frequently observed in patients with Down syndrome who are hospitalized (62%) and are a common cause of death in this aneuploidy in the first 2 years of life.The most common congenital heart defects are the following:- Endocardial cushion defect (43%), which results in atrioventricular septal defect (AVSD)/AV canal defect- Ventricular septal defect (32%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (6%)- Isolated patent ductus arteriosus (4%).About 30% of patients have more than one cardiac defect. The most common secondary lesions are patent ductus arteriosus (16%), atrial septal defect, and pulmonic stenosis (9%). About 70% of all endocardial cushion defects are associated with Down syndrome.Valve abnormalities, such as mitral valve prolapse or aortic regurgitation may develop in up to 40-50% of adolescents and adults who were born without structural heart disease.

The most likely organism is enterohemorrhagic verotoxin-producing E.coli. It usually causes haemolytic uremic syndrome.

Crohn’s disease rarely manifests in an acute manner.

Polio and giardiasis usually manifest with non-bloody diarrhoea.

Thread worms don’t always cause symptoms, but people often experience itchiness around their bottom or vagina. It can be worse at night and disturb sleep.

Prevalence:

This is the proportion of individuals in a population who have a specific condition, disease, or attribute at a given point in time or over a specific period.

Incidence:

This is the number of new cases of a specific condition, disease, or attribute that develop in a population during a specified period of time.

Specificity:

This refers to the ability of a test to correctly identify those without the condition (true negative rate).

Sensitivity:

This refers to the ability of a test to correctly identify those with the condition (true positive rate).

Probability:

This is a measure of the likelihood that an event will occur. In the context of diseases, it can refer to the likelihood of developing a condition.

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

Based on the clinical scenario provided, this patient most probably has impacted gall stones. Gall stones in children can be caused by haematological diseases such as sickle cell anaemia and thalassemia. Cholesterol stones are also becoming more prevalent. A dilated common bile duct (> 10mm in adults) suggests gall stone impaction. The presence of pyrexia indicates cholecystitis.

A 2 year old child who is developing normally should be able to point to three body parts, identify familiar objects in his environment such as a crayon or a toy and follow simple instructions.At 3 years old he should be able to copy a circle, jump up and down and name three colours.

Answer: Transposition of the great arteriesTransposition of the great arteries (TGA) is the most common cyanotic congenital heart lesion that presents in neonates. The hallmark of transposition of the great arteries is ventriculoarterial discordance, in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.Infants with transposition of the great arteries (TGA) are usually born at term, with cyanosis apparent within hours of birth.The clinical course and manifestations depend on the extent of intercirculatory mixing and the presence of associated anatomic lesions. Note the following:Transposition of the great arteries with intact ventricular septum: Prominent and progressive cyanosis within the first 24 hours of life is the usual finding in infants if no significant mixing at the atrial level is evident.Transposition of the great arteries with large ventricular septal defect: Infants may not initially manifest symptoms of heart disease, although mild cyanosis (particularly when crying) is often noted. Signs of congestive heart failure (tachypnoea, tachycardia, diaphoresis, and failure to gain weight) may become evident over the first 3-6 weeks as pulmonary blood flow increases.Transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: Infants often present with extreme cyanosis at birth, proportional to the degree of left ventricular (pulmonary) outflow tract obstruction. The clinical history may be similar to that of an infant with tetralogy of Fallot.Transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease: Progressively advancing pulmonary vascular obstructive disease can prevent this rare subgroup of patients from developing symptoms of congestive heart failure, despite a large ventricular septal defect. Most often, patients present with progressive cyanosis, despite an early successful palliative procedure.

Most infants have a good heart rate after birth and establish breathing by about 90 s. If the infant is not breathing adequately aerate the lungs by giving 5 inflation breaths, preferably using air. Until now the infant’s lungs will have been filled with fluid.

The thyroid gland is one of the first endocrine glands to develop, and is formed from the endoderm of the epithelial tissue of the primitive pharynx. The mature gland is functionally made up of follicles with colloid which contain the pro hormone thyroglobulin. Thyroid hormone is synthesised at a cellular level and is stored as thyroglobulin, before its release as thyroid hormone, a major modulator of metabolism. In between the follicular cells are parafollicular, or C-cells which secrete parathyroid hormone or calcitonin which are responsible for calcium regulation in the body.

The most probable diagnosis for the clinical scenario provided is coarctation of the aorta. It contributes to about 4% of all congenital heart disease and is more prominent in males than females.It is associated with trisomy 13 and 18, Turner syndrome, valproate toxicity as well as ventricular septal defects, persistent ductus arteriosus, mitral valve abnormalities and berry aneurysms of the circle of Willis. Other associated cardiac abnormalities include a bicuspid aortic valve (50%), mitral valve disease, aortic regurgitation (20%) and subaortic stenosis. Ninety-eight per cent of coarctations occur at the level of the pulmonary artery after the subclavian artery. It is for this reason that, on observation, the proximal blood pressure varies compared with the distal blood pressure. The blood pressure in the right arm is often higher than that in the left arm. Clinically, these children present with hypertension, prominent carotid pulses, radio-femoral delay, left ventricular hypertrophy and an ejection systolic murmur maximum over the posterior left interscapular area. An apical click over the aortic valve may be heard. Coarctation of the aorta may be simple (post-ductal), or complex (pre-ductal or with a septal defect), and may be associated with aortic stenosis, transposition of the great arteries or a bicuspid aortic valve. The ECG and chest radiograph may be normal. However, as the child enters the first decade, evidence of cardiomegaly, congestive heart failure, post-stenotic dilatation with a dilated subclavian artery and rib notching may be noticed. The ECG may show right ventricular hypertrophy, left ventricular hypertrophy in infancy and right axis deviation. Complications of coarctation of the aorta include left ventricular failure, cerebral haemorrhage, aortic dissection, renal vascular stenosis and infective endocarditis. This condition may result in death due to an aortic aneurysm or rupture in the third or fourth decade of life. It may also cause premature ischaemic heart disease as a result of hypertension. If left untreated, 20% of individuals die before 20 years of age and 80% before 50 years of age. Treatment options include surgical balloon dilatation or the grafting of a subclavian flap, and should surgical correction not normalise the blood pressure, further medical management is required.

Coarctation of the aorta is one of the serious forms of congenital heart diseases Occurring in about 1 in 2,500 births. It is characterized by a congenitally narrowed proximal thoracic aorta. Coarctation can occur in isolation but can accompany other cardiac lesions, including a bicuspid aortic valve in 70% of the cases and berry aneurysms in 10% of the cases. Coarctation of the aorta is commonly found in association with Turner’s syndrome, Edward’s syndrome, and Patau syndrome.

Inhaled objects are more likely to enter the right lung for several reasons. First the right bronchus is shorter, wider and more vertical than the left bronchus. Also, the carina (a ridge-like structure at the point of tracheal bifurcation) is set a little towards the left. The terminal bronchiole is a very small space and impossible for the seed to lodge here.

Bone age is used to determine the maturation of a child’s bones’ and is used to detect pathological growth. This is done using the X-ray of the wrist. Several conditions can either advance or delay the bone age such that they may not match the child’s chronological age. Bone age is advanced in conditions where there are prolonged or elevated sex hormone levels such as precocious puberty, or in genetic overgrowth conditions such as Beckwith-Wiedemann syndrome. Bone age is delayed in constitutional growth delay, chronic ill health, endocrine disorders such as growth hormone deficiencies or hypothyroidism, genetic disorders such as Trisomy 21, Trisomy 18, and Turner’s syndrome. Obesity is unlikely to cause growth delay.

One of the options of Psoriasis treatment is vitamin D analogues i.e. calcipotriol. Acne is exacerbated by steroids. Erythema nodosum can be caused by various diseases and the treatment of the primary condition resolves the symptoms. Lipomas requires surgery, whereas Steven-Johnson syndrome requires use of steroids and eliminating the culprit drug, which is one of the most common causes.

Café-au-lait spots is hyperpigmented lesions that vary in colour from light brown to dark brown, with borders that may be smooth or irregular. Causes include:
Neurofibromatosis type I
McCune–Albright syndrome
Legius syndrome
Tuberous sclerosis
Fanconi anaemia
Idiopathic
Ataxia-telangiectasia
Basal cell nevus syndrome
Benign congenital skin lesion
Bloom syndrome
Chediak-Higashi syndrome
Congenital nevus
Gaucher disease
Hunter syndrome
Maffucci syndrome
Multiple mucosal neuroma syndrome
Noonan syndrome
Pulmonary Stenosis
Silver–Russell syndrome
Watson syndrome
Wiskott–Aldrich syndrome

Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. This condition is inherited in an autosomal recessive pattern.Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage| the muscles, thyroid, pancreas, and testes may also be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The build-up of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age.

A cohort study is a particular form of longitudinal study that samples a cohort (a group of people who share a defining characteristic, typically those who experienced a common event in a selected period, such as birth or graduation), performing a cross-section at intervals through time.
The relative risk (RR) or risk ratio is the ratio of the probability of an outcome in an exposed group to the probability of an outcome in an unexposed group. Relative risk is used in the statistical analysis of the data of experimental, cohort and cross-sectional studies, to estimate the strength of the association between treatments or risk factors, and outcomes.

Based on the clinical scenario, the most probable diagnosis in this patient is Kallmann’s syndrome.Kallmann’s syndrome is due to isolated gonadotrophin-releasing hormone (GnRH) deficiency. It is often inherited in an X-linked recessive manner. Other options:- While Klinefelter’s syndrome is also associated with hypogonadism, the other clinical features of Klinefelter’s are not seen. – Cryptorchidism is ruled out by the presence of testes in the scrotum. – The presentation of the child is not suggestive of mumps orchitis or hyperprolactinaemia.

Prednisone is used for the treatment of myasthenia gravis if there is no initial response to the anticholinesterase medications. Pyridostigmine can make the symptoms of myasthenia gravis worse if used  in the initial stages of treatment. 

The prognosis for croup is excellent, and recovery is almost always complete with complications being quite rare. The possible complications are pneumonia, bacterial tracheitis, pulmonary oedema, pneumothorax, pneumomediastinum, lymphadenitis or otitis media. Bacterial tracheitis is a life-threatening infection that can arise after the onset of an acute viral respiratory infection.

Haemolytic disease of the new-born due to ABO incompatibility is usually less severe than Rh incompatibility. One reason is that fetal RBCs express less of the ABO blood group antigens compared with adult levels. In addition, in contrast to the Rh antigens, the ABO blood group antigens are expressed by a variety of fetal (and adult) tissues, reducing the chances of anti-A and anti-B binding their target antigens on the fetal RBCs.ABO HDN occurs almost exclusively in the offspring of women of blood group O, although reports exist of occasional cases in group A mothers with high‐titre anti‐(group B) IgG

Ebstein’s anomaly is characterised by apical displacement and adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium, thereby displacing the functional tricuspid orifice apically and dividing the right ventricle into two portions. The main haemodynamic abnormality leading to symptoms is tricuspid valve incompetence. The clinical spectrum is broad| patients may be asymptomatic or experience right-sided heart failure, cyanosis, arrhythmias and sudden cardiac death (SCD). Many Ebstein’s anomaly patients have an interatrial communication (secundum atrial septal defect (ASD II) or patent foramen ovale). Other structural anomalies may also be present, including a bicuspid aortic valve (BAV), ventricular septal defect (VSD), and pulmonary stenosis. The morphology of the tricuspid valve in Ebstein anomaly, and consequently the clinical presentation, is highly variable. The tricuspid valve leaflets demonstrate variable degrees of failed delamination (separation of the valve tissue from the myocardium) with fibrous attachments to the right ventricular endocardium.The displacement of annular attachments of septal and posterior (inferior) leaflets into the right ventricle toward the apex and right ventricular outflow tract is the hallmark finding of Ebstein anomaly.

This child has pseudo hypoparathyroidism. It is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphatemia, and increased serum concentration of PTH.Patients with pseudo hypoparathyroidism type 1a present with a characteristic phenotype collectively called Albright hereditary osteodystrophy (AHO). The constellation of findings includes the following:Short statureStocky habitusObesityDevelopmental delayRound faceDental hypoplasiaBrachymetacarpalsBrachymetatarsalsSoft tissue calcification/ossificationThe goals of therapy are to maintain serum total and ionized calcium levels within the reference range to avoid hypercalcaemia and to suppress PTH levels to normal. This is important because elevated PTH levels in patients with PHP can cause increased bone remodelling and lead to hyper-parathyroid bone disease.The goals of pharmacotherapy are to correct calcium deficiency, to prevent complications, and to reduce morbidity. Intravenous calcium is the initial treatment for all patients with severe symptomatic hypocalcaemia. Administration of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, remains the mainstay of treatment and should be initiated in every patient with a diagnosis of pseudo hypoparathyroidism.

Immunoglobulin G (IgG) glomerular immune deposits are seen more commonly in HSP compared to IgA nephropathy.The presentation of the child is highly suggestive of Henoch-Schönlein purpura (HSP). It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection A.A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

This girl most probably has Turner’s syndrome, which is caused by the absence of one set of genes from the short arm of one X chromosome.Turner syndrome is a lifelong condition and needs lifelong oestrogen replacement therapy. Oestrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose oestrogens. These can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months| progestin can be added later.In childhood, growth hormone therapy is standard to prevent short stature as an adult.Fetal ovarian development seems to be normal in Turner syndrome, with degeneration occurring in most cases around the time of birth so pulsatile GnRH and luteinising hormone would be of no use.

Retinopathy screening need not be done on an annual basis for a 9-year-old child. Screening for diabetic retinopathy should begin at the age of 12.Diabetes mellitus is an increasing problem in both developing and developed countries alike. Some of the risk factors include:ObesityFamily historyFemale sex Asian and African racesPresence of acanthosis nigricans is seen with type 2 but not type 1 diabetesThe diagnosis is mostly incidental or subacute.The treatment aims are good blood sugar control, maintenance of normal BMI, and reduction of complications. The treatment modality also includes lifestyle modifications and cessation of smoking. Even after all this, diabetic ketoacidosis can still occur.Management of diabetes mellitus – NICE guidelines (Updated, 2015): – Standard release metformin should be offered from the moment of diagnosis.- HBA1c should be measured every three months. The target HBA1c level of 48 mmol/mol (6.5%) or lower is ideal for minimising the risk of long term complications.- Children should undergo an eye examination by an optician every two years.- Annual immunisation against influenza and pneumococcal infections are essential.- There is an increased risk of psychological and psychosocial difficulties if the child with type 1 diabetes is on insulin or oral hypoglycaemic medications. These include anxiety disorder, depression, behavioural and conduct disorders and family conflict.- Annual monitoring to be done for:Hypertension starting at diagnosis.Dyslipidaemia starting at diagnosis.Screening for microalbuminuria starting at diagnosis.Diabetic retinopathy from 12 years of age.

Pyloric stenosis affects infants, typically in the second to fourth weeks of life and is caused most commonly by hypertrophy and thickening of the pylorus. It usually presents with projectile vomiting and failure to thrive. The infant usually has a normal appetite. Features include: ‘projectile’ vomiting, typically 30 minutes after a feed, constipation and dehydration may also be present and a palpable mass may be present in the upper abdomen.

Hyperkalaemia presents with high voltage (peaked) T waves on ECG. Other features on ECG include smaller p-waves and wider QRS complexes.

Pale stools suggest obstructive jaundice. Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. However, infants with biliary atresia develop progressive conjugated jaundice, pale white stools and dark urine.

Neonatal hypoglycaemia is a serious condition that needs prompt attention and management. The accepted criteria to define neonatal hypoglycaemia is blood sugar levels less than 2.2mmol/L during the first 3 days of life and less than 2.5mmol/L later on. Multiple aetiologies and various risk factors are involved in causing hypoglycaemia in new-borns| the most common and important causes include prematurity, erythroblastosis fetalis, hypoxia at birth, sepsis, inborn errors of metabolism, hypopituitarism, and hyperinsulinism due to maternal diabetes. Inborn errors of metabolism that lead to persistent neonatal hypoglycaemia are maple syrup urine disease, glycogen storage disease, fatty acid enzyme deficiencies, and fructose intolerance. Phenylketonuria does not cause hypoglycaemia.

Projectile vomiting is the hallmark symptom of hypertrophic pyloric stenosis. It is the most common cause of intestinal obstruction in infancy, which has a male-to-female predominance of 4-5:1. Current management recommendations include ultrasonography for diagnosis, correction of electrolytes, and surgical intervention.

As this boy has experienced significant dry spells in the past, it is unlikely that a structural abnormality is causing the enuresis. The only therapies that have been shown to be effective in randomized trials are alarm therapy and treatment with desmopressin acetate or imipramine. Bladder training exercises are not recommended. Desmopressin acetate is the preferred medication for treating children with enuresis.

Foreign body aspiration (FBA) commonly occurs in children aged 1–3 years. FBA typically presents with sudden onset of coughing and choking, followed by stridor and dyspnoea. Obstruction of the larynx or trachea is a potentially life-threatening situation that causes severe respiratory distress, cyanosis, and suffocation. Most commonly, the foreign body (FB) becomes lodged in the main and intermediate bronchi| approx. 60% of FB are located in the right main bronchus due to the more vertical orientation compared to the left main bronchus. Reduced breath sounds on the one side only would not be explained by a tracheal obstruction as it would cause reduced breath sounds bilaterally and a more severe clinical picture.

An appendicular mass, on the whole, is managed medically with intravenous antibiotics and monitoring for signs of obstruction or on-going sepsis. If the child is not responding to medical management, then surgery is performed. This is due to the high morbidity risk associated with operating on an appendicular mass. Consent for a limited right hemi-colectomy must be taken after explaining the increased risk of complications. The decision whether or not to perform an interval appendicectomy is controversial and currently subject to a multicentre national trial. The likelihood of another episode of appendicitis is 1 in 5. Other options:- Ultrasound and clinical examination is sufficient to confirm the diagnosis, especially in a boy. This may not be the case in females.- Majority of appendicular masses respond to conservative management. – Raised CRP indicates significant inflammatory response and thus intravenous antibiotics are indicated. – Intravenous antibiotics are indicated due to sepsis. Oral antibiotics are not sufficient to tackle sepsis in this scenario.

Tricuspid atresia is the third most common form of cyanotic congenital heart disease, with a prevalence of 0.3-3.7% in patients with congenital heart disease. The deformity consists of a complete lack of formation of the tricuspid valve with the absence of a direct connection between the right atrium and right ventricle.The following 3 considerations guide the treatment of infants with tricuspid atresia:- The amount of pulmonary blood flow must be regulated to decrease hypoxemia or symptoms of congestive heart failure.- Myocardial function, the integrity of the pulmonary vascular bed, and pulmonary vascular integrity must be preserved to optimize conditions for a later Fontan operation.- The risk of bacterial endocarditis and thromboembolism must be minimized.Infants with decreased pulmonary blood flow: encompasses most of the infants with tricuspid atresia.Marked cyanosis and hypoxemia characterize the clinical course. Acidaemia may occur if the hypoxemia is profound, and death can ensue.Promptly treat infants with severe hypoxemia with prostaglandin E infusions to maintain patency of the ductus arteriosus and improve pulmonary blood flow.Infants with increased pulmonary blood flow: These infants have an associated unrestrictive ventricular septal defect and transposed great vessels.They present with severe congestive heart failure and benefit from digitalis and diuretic therapy until an operative intervention can be undertaken to restrict the pulmonary blood flow.

The most probable diagnosis based on the scenario provided above is hereditary spherocytosis.While jaundice and abdominal pain might make you think of hepatitis or cholecystitis in the first instance, the lack of fever suggests otherwise. The apyrexial presentation is against acute cholecystitis, and the past medical history reveals a chronic type of fatigue and two previous episodes of hepatitis. Furthermore, it is unlikely that the child has contracted infective hepatitis twice and now a third time! The most common cause of hepatitis in childhood is hepatitis A, however the lack of travel history to endemic areas makes this less likely. Hepatitis A is usually a mild, self-limiting disease that never presents with chronic symptoms. The chronicity of his fatigue and the blood results lead towards a haematological diagnosis. This is further substantiated by his low haemoglobin levels, high MCV and high reticulocyte count. Chronic haemolytic anaemia is the most likely cause, and the negative Coombs excludes autoimmune haemolytic anaemia (AIHA). Thus, leaving us with the answer as hereditary spherocytosis.Hereditary spherocytosis is a disorder that makes the cytoskeleton of red cells more fragile and therefore leads to red cell death and splenomegaly. Gallstones are a result of this red cell destruction and increased haem metabolism.

Angio-oedema, is the rapid swelling of the skin, mucosa and submucosal tissues. The underlying mechanism typically involves histamine or bradykinin. The version related to histamine is to due an allergic reaction to agents such as insect bites, food, or medications. The version related to bradykinin may occur due to an inherited C1 esterase inhibitor deficiency, medications e.g. angiotensin converting enzyme inhibitors, or a lymphoproliferative disorder.

Internal abdominal bleeding is most probably the cause of the child’s shock, especially unresponsive to fluid boluses.

According to the NICE guidelines, the frequency of stool passage is considered constipation when two or more of the following findings are present: Fewer than 3 stools a week, large hard stools, stools that resemble rabbit droppings| symptoms associated with defecation including distress, bleeding or straining| a history of previous episodes of a precious/current anal fissure. The child in the scenario fails to meet the criteria, and has no evidence of impacted faeces on examination. The best course of action is to encourage the parents to give the child more water to prevent dehydration, and feed the child a fibre rich diet including fruits, vegetables and high fibre bread.

The perinatal mortality rate is defined as the number of perinatal deaths per 1000 total births. Perinatal death includes the death of a live-born neonate within 7-days of life (early neonatal death) and the death of a fetus ≥ 22 weeks of gestation (stillbirth). Hence, the perinatal mortality rate is calculated by dividing the number of still births+ the number of early neonatal deaths by 1000 births.

Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body.The hallmark finding of Crigler-Najjar syndrome is a persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice).There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe, even life-threatening symptoms| and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Both forms are inherited as autosomal recessive traits and are caused by errors or disruptions (mutations) of the UGT1A1 gene.The symptoms of Crigler-Najjar syndrome type I become apparent shortly after birth. Affected infants develop severe, persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). These symptoms persist after the first three weeks of life.Infants are at risk for developing kernicterus, also known as bilirubin encephalopathy, within the first month of life.Crigler-Najjar syndrome type II is a milder disorder than type I. Affected infants develop jaundice, which increases during times when an infant is sick (concurrent illness), has not eaten for an extended period (prolonged fasting) or is under general anaesthesia. Some people have not been diagnosed until they are adults. Kernicterus is rare in Crigler-Najjar syndrome type II, but can occur especially when an affected individual is sick, not eating or under anaesthesia

Anorexia nervosa is an eating disorder which is characterized by distorted self-image leading to abnormally decreased calorie intake. This disorder affects multiple bodily systems, including the skin, GI, and endocrine system. Due to extreme weight loss, patients with anorexia nervosa develop cold intolerance along with bluish discoloration of their fingers, nose, and ears, which is known as acrocyanosis. This phenomenon may be due to the shunting of the blood from the peripheries to the central body systems as a reaction to hypothermia. Other notable changes in the integumentary system include extreme dryness (xerosis), lanugo hairs, decubitus ulcers, and easy bruisibility.

This clinical presentation is highly suggestive of choking. According to the BLS algorithm, the next step in managing a case of choking in a conscious child with an ineffective cough is five back blows.Other options:- Adrenaline intramuscularly: The history is similar to anaphylaxis, but the absence of a rash or oedema and the acute onset make choking more likely in this situation. Thus, adrenaline will not be of use in this patient.- CPR at a ratio of 15:2: Since the child is conscious, it is not advised. If the child were unconscious, you would commence basic life support.- Five abdominal thrusts: In the given scenario, the child is an infant. Abdominal thrusts are avoided in infants due to the risk of intra-abdominal injury.

The primary intestinal loop is formed from the midgut which gives rise to the distal half of the duodenum, the jejunum, ascending colon, proximal two thirds of the transverse colon and the ileum.

Children who present with ruptured appendices are at increased risk of intra abdominal collections or abscesses. A swinging temperature is the first clue in indicating an intra abdominal abscess in a patient who had recently undergone surgery for a perforated appendix. The best course of action is therefore to get an ultrasound of the fluid collection before proceeding to rule out any other complication.

Peutz-Jeghers syndrome is an autosomal dominant genetic disease. It presents with hyperpigmentation patches on the oral mucosa, lips, palm and soles, and nasal alae. It also presents with hamartomatous polyps in the gut, hence the fresh blood in this particular case.

Intussusception is the invagination of one segment of the intestine within a more distal segment. It presents with vomiting, abdominal pain, and a palpable abdominal mass.Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls

Three physical changes – breast budding, pubic hair growth, and axillary hair growth in the order mentioned precede menarche. These changes are due to oestrogen, a hormone essential for pubertal development.The various pubertal changes in males include:-Testicular growth: It is the first sign of puberty occurring at around 12 years of age (Range = 10 – 15 years).- Testicular volume: An increase in the volume of testicles to 4 ml indicates the onset of pubertyThe various pubertal changes in females include:- The first sign is breast development at around 11.5 years of age (range = 9-13 years)- Followed by the onset of height spurt reaching the maximum in puberty (at 12 years of age)- The final change that occurs is termed menarche at 13 (11-15) years of age.Some of the other pubertal changes include:- Gynecomastia may develop in boys- Asymmetrical breast growth may occur in girls- Diffuse enlargement of the thyroid gland

The paired sample t-test, sometimes called the dependent sample t-test, is a statistical procedure used to determine whether the mean difference between two sets of observations is zero. In a paired sample t-test, each subject or entity is measured twice, resulting in pairs of observations. Common applications of the paired sample t-test include case-control studies or repeated-measures designs.Statistical significance is determined by looking at the p-value. The p-value gives the probability of observing the test results under the null hypothesis. The lower the p-value, the lower the probability of obtaining a result like the one that was observed if the null hypothesis was true. Thus, a low p-value indicates decreased support for the null hypothesis. However, the possibility that the null hypothesis is true and that we simply obtained a very rare result can never be ruled out completely. The cut-off value for determining statistical significance is ultimately decided on by the researcher, but usually a value of .05 or less is chosen. This corresponds to a 5% (or less) chance of obtaining a result like the one that was observed if the null hypothesis was true.

Compared to parametric tests, non parametric tests are seen to be less powerful as they often contend with fewer assumptions, and may use less information from the data. Sample sizes can be smaller. The samples do not have to follow a normal distribution as in parametric tests, and data may be ordinal, ranked or contain outliers that cannot be removed. Therefore nonparametric tests are well suited for these instances and do not need to be used as a last resort. They are not any more complex than parametric tests.

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Bowel sounds in the chest and curved NG tube are suggestive of a diaphragm rupture, which has caused herniation of bowel into the thoracic cavity through the defect in the diaphragm.

Eczema is an immune-mediated inflammatory condition of the skin characterized by intense pruritis and scaly rashes over the body. The impact of the disease can be measured by using certain scales, which include the Dermatitis Family Impact (DFI) Questionnaire, infant’s Dermatitis Quality of Life Index, Patient-oriented Eczema Measure, and Children’s Dermatology Life Quality Index among many others. Eczema severity questionnaire is not a recognized scale to determine eczema impact.

Hirsutism is the growth of excess hair in androgen dependent areas or in a male pattern. The phenomenon is found in conditions where there is abnormal androgen action. This can occur in adrenal lesions including congenital adrenal hyperplasia, and Cushing syndrome, or a failure to produce adequate female hormones such as PCOS and premature menopause. Similarly, drugs such as anabolic steroids, danazol and minoxidil can also cause hirsutism. Delayed puberty is unlikely to cause hirsutism.

The post-ingestion plasma level, which is required in order to guide the treatment, reaches a peak at 4 hours. Levels requiring antidote (N-acetyl cysteine) include: 100 mcg per ml at 4 hours, 35 mcg per ml at 10 hours and 25 mcg per ml at 12 hours. These levels are in conjunction with the levels recorded and they should all be put down on a treatment nomogram.

The origins of the neural tube and the nape of the neck where nuchal translucency measurements are taken are from embryonic ectoderm.The structural development of the head and neck occurs between the third and eighth weeks of gestation. The 5 pairs of branchial arches, corresponding to the primitive vertebrae gill bars, that form on either side of the pharyngeal foregut on day 22 are the embryologic basis of all the differentiated structures of the head and neck. Each arch consists of 3 layers: an outer covering of ectoderm, an inner covering of endoderm, and a middle core of mesenchyme. These arches are separated further into external, ectoderm-lined pharyngeal clefts and internal, endoderm-lined pharyngeal pouchesA population of ectodermal cells adjacent to the neural fold and not included in the overlying surface (somatic) ectoderm gives rise to the formation of the neural crest. These neuroectodermal crest cells are believed to migrate widely throughout the developing embryo in a relatively cell-free enriched extracellular matrix and differentiate into a wide array of cell and tissue types, influenced by the local environment. Most connective and skeletal tissues of the cranium and face ultimately come from the derivatives of neural crest cells.

The P value is defined as the probability under the assumption of no effect or no difference (null hypothesis), of obtaining a result equal to or more extreme than what was actually observed. The P stands for probability and measures how likely it is that any observed difference between groups is due to chance. Being a probability, P can take any value between 0 and 1. Values close to 0 indicate that the observed difference is unlikely to be due to chance, whereas a P value close to 1 suggests no difference between the groups other than due to chance. Thus, it is common in medical journals to see adjectives such as “highly significant” or “very significant” after quoting the P value depending on how close to zero the value is.A lower p-value is sometimes interpreted as meaning there is a stronger relationship between two variables. However, statistical significance means that it is unlikely that the null hypothesis is true (less than 5%).To understand the strength of the difference between two groups (control vs. experimental) a researcher needs to calculate the effect size.

The boy is most likely to have sustained an injury to his brachial plexus as a result of upward traction of his arm for an extended period of time. We can rule out the topmost nerve roots of the brachial plexus, C6 and C7 as these supply the larger muscles of the arm responsible for moving the shoulder, the elbow and the wrist. The anatomical structure affected is therefore the T1 nerve root which is responsible for movement of the muscles in the hand. This type of injury is called a Klumpke’s Palsy, which is the result of a hyper-abducted trauma to the arm, damaging the C8 and T1 nerve roots. While the radial and ulnar nerve also innervate the hand, the history given points to Klumpke’s palsy as the best explanation for this mechanism of injury.

Based on the history and clinical presentation, she most likely has iron toxicity.Iron can cause scarring of the gut mucosa. This explains her pyloric stenosis. This typically occurs at the pylorus as this is where iron tablets tend to pool and cause maximal tissue damage.Other options:- Citalopram: Selective serotonin reuptake inhibitors (SSRIs) ingestion rarely causes serious consequences. It can rarely lead to serotonin syndrome (autonomic instability, mental status change, and increased neuromuscular tone).- Ibuprofen: While it may cause gastritis, ibuprofen does not cause pyloric/intestinal stenosis.- Thyroxine: An overdose of thyroxine will cause features of hyperthyroidism which are not present in the patient in question.- Zinc: High doses of zinc can cause abdominal cramps, nausea, vomiting and diarrhoea.

Broca’s area is usually supplied by branches from the middle cerebral artery and thus will be spared when the anterior cerebral artery is occluded.Note:The two internal carotid arteries and two vertebral arteries form an anastomosis known as the Circle of Willis on the inferior surface of the brain. Each half of the circle is formed by:1. Anterior communicating artery2. Anterior cerebral artery3. Internal carotid artery4. Posterior communicating artery5. Posterior cerebral arteries and the termination of the basilar arteryThe circle and its branches supply the corpus striatum, internal capsule, diencephalon and midbrain.

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum| instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Usage of inhaled corticosteroids are less associated with systemic adverse effects. However they are associated with local complications including dental caries and most commonly dysphonia.

Neuroanatomically, the frontal lobe is the largest lobe of the brain lying in front of the central sulcus. It is divided into 3 major areas defined by their anatomy and function. They are the primary motor cortex, the supplemental and premotor cortex, and the prefrontal cortex. Damage to the primary motor, supplemental motor, and premotor areas lead to weakness and impaired execution of motor tasks of the contralateral side. The inferolateral areas of the dominant hemisphere are the expressive language area (Broca area, Brodmann areas 44 and 45), to which damage will result in a non-fluent expressive type of aphasia.

Osteoid osteoma is a bone forming tumour which affects individuals in the second decade of life. The patient presents with a history of pain in the lower limbs which is mostly at night and responds to NSAIDS. If the pain doesn’t respond to NSAIDS, then other differentials should be considered.

Endothoracic fascia: the connective tissue (fascia) that is between the costal parietal pleura and the inner wall of the chest wall.
Costomediastinal recess: the point where the costal pleura becomes mediastinal pleura.
Costodiaphragmatic recess: is the lowest point of the pleural sac where the costal pleura becomes diaphragmatic pleura.
Cupola: the part of the parietal pleura that extends above the first rib level into the root of the neck.
Costocervical recess: this is a made-up term.
Peritracheal fascia: a layer of connective tissue that invests the trachea.

The management of cystic fibrosis requires a multidisciplinary approach, starting with a planned diet.The critical points of this management approach are:Chest physiotherapy and postural drainage – the parents are usually taught to do this.Deep breathing exercises,High calorie, high fat intake with vitamin supplementation.Pancreatic enzyme supplements with meals.Heart-lung transplantation would be the definitive treatment.Note: Previously, a high-calorie, low-fat diet was recommended to reduce steatorrhea. However, it is no longer the desired approach.

Intussusception is the most suggested case here based on the child’s symptoms. The urgent course of treatment is to bring the child to a paediatric surgical unit. If air reduction attempts fail, surgery will have to be done. Risk factors for intussusception include viral infection and intestinal lymphadenopathy.

The most probable diagnosis for this patient, according to the clinical scenario provided is tuberous sclerosis. It is an autosomal-dominant disorder characterised by hamartomas located throughout the body, often prominently involving the central nervous system and skin. Two loci on chromosomes 9 and 16 have been identified to be associated with this condition. The condition has a variable expression and penetrance and is further characterised by:- Seizures (usually infantile spasms)- Developmental delay- Facial/cutaneous angiofibromas (adenoma sebaceum)- Periungual fibromas (pink projections from the nail folds)- Shagreen patches (leathery thickenings of the skin usually on the back) – Ash leaf macules (areas of depigmentation that become visible under a Wood’s light)- Fundoscopy may reveal white streaks along the fundal vessels.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of near-sightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.

Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The hallmark of SWS is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain (PWS).Signs and symptoms:SWS is generally diagnosed clinically, based on the typical cutaneous, central nervous system (CNS), and ocular abnormalities associated with it.Neurological signs include the following:Developmental delay/intellectual disabilityLearning problemsAttention deficit-hyperactivity disorderInitial focal seizures progressing to frequent, secondarily generalized seizuresIncreasing seizure frequency and duration despite the use of antiepileptic drugs (AEDs)Increasing duration of a transient postictal deficitIncrease in focal or diffuse atrophy – Determined by serial neuroimagingProgressive increase in calcificationsDevelopment of hemiparesisDeterioration in cognitive functioningPhysical signs of SWS are as follows:Port-wine stainMacrocephalyOcular manifestationsSoft-tissue hypertrophyHemiparesisVisual lossHemianopsiaOcular involvement in SWS may include the following signs:BuphthalmosGlaucomaTomato-catsup colour of the fundus (ipsilateral to the nevus flammeus) with glaucomaConjunctival and episcleral haemangiomasDiffuse choroidal haemangiomasHeterochromia of the iridesTortuous retinal vessels with occasional arteriovenous communications

The most probable diagnosis for this patient would be Edward syndrome.Edward syndrome results from trisomy 18. It is the second most common syndrome after Down syndrome. 60% of cases die within 48 hours, and 90% within the first year due to apnoeas. Cardiovascular abnormalities include atrial septal defect, ventricular septal defect and a persistent ductus arteriosus. There is no association with exophthalmos, but it may occur. Right choroid plexus cysts are found on coronal imaging, and 40–70% at post mortem are shown to have multiple large bilateral choroid plexus cysts (>10 mm). These may not become pathological but usually trigger an anomaly scan. Around 1% of cases may present with only a cyst, but 4% may present with other abnormalities.Other options:- Children with the velocardiofacial syndrome have a classic facial appearance with hypertelorism, a tubular nose, a cleft lip/palate abnormality and cardiac anomalies. – Children with Patau syndrome usually present with midline defects and are less likely to have rocker-bottom feet. – Children with Treacher Collins syndrome present with abnormalities of the branchial arches and pharyngeal pouches.

Unconjugated bilirubin is conjugated to glucuronic acid in the hepatocyte. Conjugated bilirubin passes into the enterohepatic circulation and the bilirubin which evades this system is metabolised by bacteria, primarily in the large intestine, to urobilinogen, then stercobilinogen and eventually oxidised to stercobilin. Stercobilin gives faeces its brown colour.

Minimal change nephrotic syndrome leads to the loss of anti-thrombin III which protects the body from forming venous emboli. It may be triggered by virus, immunisations, medication, non-Hodgkin lymphoma, or leukaemiaCharacterised by oedema, proteinuria, hypoalbuminemia, and hypercholesterolemia.

The child most likely has nephritic syndrome which is characterised by a reduced renal function, proteinuria of non-nephrotic range, haematuria, erythrocyte casts, and oedema. Polyarteritis nodosa usually occurs in middle-aged men but can also be seen in young children. It is accompanied by severe systemic manifestations such as fever, malaise, weight loss and myalgia.Renal cell carcinoma usually presents around 55 years with the classic triad of haematuria, loin pain and a unilateral mass in the flank.Polycystic kidney disease usually presents in adult life with acute loin pain and palpation of masses in the flanks.

Various types of birthmarks are commonly seen in children of different age groups. Birthmarks can be broadly classified as pigmented and vascular birthmarks. Port-wine stain (nevus flammeus) is an example of a vascular birthmark, and is characterized by a reddish-purple discoloration of the skin due to abnormal underlying skin vasculature. Port-wine stain has also been associated with vascular diseases like Sturge-weber syndrome, which is a congenital neurocutaneous disorder. In Sturge-weber syndrome, the port-wine stain affects the skin around the ophthalmic branch of trigeminal nerve.

Tuberous sclerosis, an autosomal dominant disorder, may present with a variety of symptoms, including seizures, developmental delay, behavioural problems, skin abnormalities, and lung and kidney disease. Hamartomas are often associated.